Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants in ten unrelated patients with a neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement. Abnormal expression of Nfasc155 is accompanied by severe loss of myelinated fibres.

Tomographical aspects of L-convex polyominoes

Adherence issues related to sublingual immunotherapy as perceived by allergists.

Silvia Scurati1, Franco Frati1, Gianni Passalacqua2, Paola Puccinelli1, Cecile Hilaire1, Cristoforo Incorvaia3, Italian Study Group on SLIT Compliance 1Scientific and Medical Department, Stallergenes, Milan, Italy; 2Allergy and Respiratory Diseases, Department of Internal Medicine, Genoa; 3Allergy/Pulmonary Rehabilitation, ICP Hospital, Milan, ItalyObjectives: Sublingual immunotherapy (SLIT) is a viable alternative to subcutaneous immunotherapy to treat allergic rhinitis and asthma, and is widely used in clinical practice in many European countries. The clinical efficacy of SLIT has been established in a number of clinical trials and meta-analyses. However, because SLIT is self-administered…

Search for Gravitational Waves Associated with Gamma-Ray Bursts Detected by Fermi and Swift during the LIGO-Virgo Run O3a

Abbott, R., et al. (LIGO and VIRGO Collaboration)

Burrows-Wheeler Transform on Purely Morphic Words

The study of the compressibility of repetitive sequences is an issue that is attracting great interest. We consider purely morphic words, which are highly repetitive sequences generated by iterating a morphism φ that admits a fixed point (denoted by φ^∞(a) ) starting from a given character a belonging to the finite alphabet A , i.e. φ^∞(a)=lim_{i→∞}φ^i(a) . Such morphisms are called prolongable on a . Here we focus on the compressibility via the Burrows-Wheeler Transform (BWT) of infinite families of finite sequences generated by morphisms. In particular, denoted by r(w) the number of equal-letter runs of a word w , we provide new upper bounds on r(bwt(φ^i(a))) , i.e. the number of equal-le…